Molecular characterization of β-thalassemia mutations in Egypt

Novelletto, Andrea; Hafez, Mohamed T.; Deidda, G.; Rienzo, Anna Di; Felicetti, L.; El-Tahan, Hamed R.; Morsi, Z. El; El-Ziny, M.; Al‐Tonbary, Youssef; Sittien, Ahmed; Terrenato, L.

doi:10.1007/bf00206744

Cited by 39 publications

(20 citation statements)

References 12 publications

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“…A recent study of 95 Egyptian betathalassemic cases illustrated that the three most common HBB mutations observed were at c.92+6 (36.3%), c.93-21 (25.8%), and c.92+1 (19.0%) [53], similar to the findings in other studies carried out on Egyptians [54][55][56] (Table 2). Moreover, the seven most frequent alleles in this study accounted for 84.2% of the observed thalassemic alleles in Egypt.…”

Section: Prevalence Of Beta-thalassemia Throughout the Middle Eastsupporting

confidence: 85%

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

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Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-thalassemia major, beta-thalassemia intermedia and beta-thalassemia minor. In this article we review: 1) the molecular and biochemical basis of beta-thalassemia; 2) clinical features; 3) the range of common molecular variants of beta-thalassemia in a subset of geographic regions within the Indian Subcontinent and the Middle East; 4) potential molecular diagnostics; and 5) current and future treatments. We suggest that efforts to more completely characterize the HBB mutation distribution in high-risk areas, such as the Indian Subcontinent and the Middle East, may lead to improved diagnosis with earlier and more effective intervention strategies.

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Section: Prevalence Of Beta-thalassemia Throughout the Middle Eastsupporting

confidence: 85%

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

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“…In family 34, the ␤ 0 IVS1,nt2 (T→G) (Saudi Arabian mutation) is in haplotype IX, associated with ␤ 0 37 in haplotype I, as observed in Egypt [35].…”

Section: Discussionmentioning

confidence: 83%

“…The latter opposes the rarity of ␤ + IVS1,nt110 (2%), in association with haplotype I, as in Algeria [30], Tunisia [31], and Portugal [18,32], supporting the idea of a recent introduction in the Moroccan genetic background. The third most frequent mutation is ␤ + IVS1,nt6 (T→C) (14%) in haplotypes VI and VII as described in Portugal [18,32,33], whereas in Algeria, Tunisia, and Egypt it is associated with haplotype VI [34,35]. ␤ 0 IVS1,nt1 (G→A), found mostly in Berbers in Algeria associated with haplotypes I, III, V, IX, and A [36,37], is found in Morocco in haplotypes IV and V with a frequency of 13%.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of β thalassemia mutations and HbF levels in the heterozygous Moroccan population

et al. 2003

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“…The relative frequency of the IVS I-110 mutation decreases rapidly along the Northeast to Southwest axes, reaching its maximum among Turkish Cypriots (72.19%) and Greek Cypriots (79.86%) [18,22]. The cd 39 (C-T) mutation is the second most common mutation in the Mediterranean region, identified and is primarily a Western Mediterranean abnormality [23][24][25]. These are in complete agreement with the data known about these mutations in Mediterranean regions, especially in Greece [26] and Bulgaria [27].…”

Section: Discussionmentioning

confidence: 99%

Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population

Tălmaci

Traeger-Synodinos

Kanavakis

et al. 2004

J Cellular Molecular Medi

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Abstractβ-Thalassemia is uncommon (0.5%) in the Romanian population, but it must be considered in the differential diagnosis of hypochromic anemia. The molecular characterization of β-thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study in this region. Molecular analyses consist of mutation detection by molecular scanning of β-globin gene. This gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. Clinical application of DNA analysis on β-thalassemic chromosomes allowed characterization of 29 persons with different β-thalassemia mutations among 58 patients with anemia. The experimental strategy was based on sequential PCR amplification of most of the β-globin gene and running on denaturing gradient gel electrophoresis of amplification products. Definitive characterization of mutations in samples identified with shifted DGGE patterns was performed ARMS-PCR and/or PCR-restriction enzyme analysis methods. Eight different β-thalassemia alleles were identified, the most common being IVS I-110 (G-A) and cd 39 (C-T). Comparison of overall frequency of mutations in the neighboring countries, shows that these results are in the frame of overall distribution of these mutations in Mediterranean area, especially in Greece and in Bulgaria. Molecular diagnosis is useful for differentiating mild from severe alleles, for genetic counseling, as well as for mutation definition in carriers, identified by hematological analysis necessary for prenatal testing and genetic counseling.

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Molecular characterization of β-thalassemia mutations in Egypt

Cited by 39 publications

References 12 publications

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Spectrum of β thalassemia mutations and HbF levels in the heterozygous Moroccan population

Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population

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